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Congenital cataract

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https://www.readbyqxmd.com/read/28526010/next-generation-sequencing-for-d47n-mutation-in-cx50-analysis-associated-with-autosomal-dominant-congenital-cataract-in-a-six-generation-chinese-family
#1
Chao Shen, Jingbing Wang, Xiaotang Wu, Fuchao Wang, Yang Liu, Xiaoying Guo, Lina Zhang, Yanfei Cao, Xiuhua Cao, Hongxing Ma
BACKGROUND: Congenital cataract is the most frequent cause of blindness during infancy or early childhood. To date, more than 40 loci associated with congenital cataract have been identified, including at least 26 genes on different chromosomes associated with inherited cataract. This present study aimed to identify the genetic mutation in a six-generation Chinese family affected with congenital cataract. METHODS: A detailed six-generation Chinese cataract family history and clinical data of the family members were recorded...
May 19, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28524149/-morphological-features-of-clinical-manifestations-of-particular-congenital-lens-and-vitreous-anomalies
#2
S I Kharlap, A R Salikhova, K S Avetisov, S Е Avetisov
The review covers general clinical features of particular congenital anomalies of the human eye associated with its abnormal embryonic development. Principal literature sources on evaluation of congenital changes in the vitreous body and identification of its 'underdevelopment' in certain types of congenital cataracts have been studied. The said changes were analyzed with account to general pathology of the human body as well as local morphological manifestations. Covered is the time period from the end of the XIX century to the present...
2017: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/28507388/congenital-nuclear-cataracts-in-a-holstein-dairy-herd
#3
Stephanie Osinchuk, Lyall Petrie, Marina Leis, Fritz Schumann, Bianca Bauer, Lynne Sandmeyer, Kayla Madder, Fiona Buchanan, Bruce Grahn
This report describes congenital nuclear cataracts and posterior lenticonus in a closed purebred Holstein dairy herd in Canada. Ophthalmic examinations were completed on 30 male and 249 female cattle aged newborn to 10 years old. Nutritional, infectious, and toxic etiologies were investigated. Necropsies of 3 affected calves were performed and eyes of 2 additional affected calves were examined with light microscopy. Bilateral nuclear cataracts were identified in 53/279 (19%) animals. Additional congenital anomalies observed included posterior lenticonus, iris to lens persistent pupillary membranes (n = 7), and lenticular colobomata (n = 1)...
May 2017: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
https://www.readbyqxmd.com/read/28506473/-congenital-lamellar-cataract
#4
M Tijani, N Albaroudi, A El Bouaychi, M Laghmari, N Boutimzine, O Cherkaoui
No abstract text is available yet for this article.
May 12, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28503431/a-pilot-study-of-intraocular-lens-explantation-in-69-eyes-in-chinese-patients
#5
Fang Chai, Bo Ma, Xin-Guang Yang, Juan Li, Mei-Fang Chu
AIM: To study the effects of intraocular lens (IOL) explantation and demographic characteristics. METHODS: Retrospective non-comparative case series. Clinical data recorded from patient charts included the following: demographic, preoperative and postoperative characteristics; complications; surgical methods, and changes in visual acuity. RESULTS: A total of 69 eyes in 67 Chinese patients who received IOL explants were studied. The patients' mean age at the time of explantation was 46...
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28502635/identification-of-vitreous-proteins-in-retinopathy-of-prematurity
#6
Koji Sugioka, Akio Saito, Shunji Kusaka, Kazuki Kuniyoshi, Yoshikazu Shimomura
Retinopathy of prematurity (ROP) is a disorder of blood vessels in the retina developed in premature infants and the leading cause of the blindness in children. Proteomic analysis was performed to identify vitreous proteins specific to patients with ROP. Vitreous humor samples were obtained from three patients with ROP and two patients with congenital cataract, the latter included as a control group. The vitreous samples were separated by 2D-PAGE and the proteins running as definitive spots were identified by MALDI-TOF MS spectrometry...
May 11, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28486560/analysis-of-aqueous-humor-concentrations-of-cytokines-in-retinoblastoma
#7
Yong Cheng, Shufeng Zheng, Chung-Ting Pan, Mengke Yuan, Libin Chang, Yuou Yao, Mingwei Zhao, Jianhong Liang
To investigate the components of the aqueous humor (AH) in patients with retinoblastoma (RB). We collected 0.1 ml AH of 35 children with RB and 20 patients with congenital cataracts as controls. Multiplex enzyme-linked immunosorbent assays (ELISAs) and Luminex xMAP technology were used to assess 45 cytokines/chemokines, matrix metalloproteinases (MMPs), and acute-phase proteins in the identification cohort. The concentrations of IL-6, IL-7, IL-8, IFN-γ, PIGF-1, VEGF-A, β-NGF, HGF, EGF and FGF-2 were significantly higher in the AH of patients with RB than those in the control group (P<0...
2017: PloS One
https://www.readbyqxmd.com/read/28482824/novel-missense-mutation-in-the-bzip-transcription-factor-maf-associated-with-congenital-cataract-developmental-delay-seizures-and-hearing-loss-aym%C3%A3-gripp-syndrome
#8
Shari Javadiyan, Jamie E Craig, Shiwani Sharma, Karen M Lower, Theresa Casey, Eric Haan, Emmanuelle Souzeau, Kathryn P Burdon
BACKGROUND: Cataract is a major cause of severe visual impairment in childhood. The purpose of this study was to determine the genetic cause of syndromic congenital cataract in an Australian mother and son. METHOD: Fifty-one genes associated with congenital cataract were sequenced in the proband using a custom Ampliseq library on the Ion Torrent Personal Genome Machine (PGM). Reads were aligned against the human genome (hg19) and variants were annotated. Variants were prioritised for validation by Sanger sequencing if they were novel, rare or previously reported to be associated with paediatric cataract and were predicted to be protein changing...
May 8, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28480545/prenatal-sonographic-abnormal-appearances-of-the-fetal-hyaloid-artery-from-normal-variants-to-pathology
#9
Moshe Bronshtein, Rinat Gabbay-Benziv, Ayala Gover, Yinon Gilboa, Ron Bardin
This is a case series on the abnormal sonographic appearance and outcome of the fetal hyaloid artery (HA) detected during between 1987 and 2015 at one medical center. Fifteen cases were detected during fetal anatomy scans, usually performed at 14 to 16 weeks' gestation. Three other cases were diagnosed following referral for a second opinion. In nine fetuses, the HA regressed normally throughout pregnancy. Of them, eight neonates had normal outcomes and one had cataract at the same eye. All nine other cases ended with adverse outcomes...
May 8, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28475701/crispr-cas9-mediated-mutation-of-%C3%AE-a-crystallin-gene-induces-congenital-cataracts-in-rabbits
#10
Lin Yuan, Haobin Yao, Yuxin Xu, Mao Chen, Jichao Deng, Yuning Song, Tingting Sui, Yong Wang, Yongye Huang, Zhanjun Li, Liangxue Lai
Purpose: The present study aimed to investigate the role of the αA-crystallin gene in inducing congenital cataracts in rabbits and to construct a novel animal model for characterization and pathologic analysis of congenital cataracts for future research. Methods: We generated αA-crystallin gene knockout rabbits with congenital cataracts by coinjection of Cas9 mRNA and sgRNA into zygotes. Cataract phenotypes were investigated in a repeated study of 19 F0-generation and 11 F1-generation rabbits with αA-crystallin gene mutations...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28474685/cataract-associated-p23t-%C3%AE-d-crystallin-retains-a-native-like-fold-in-amorphous-looking-aggregates-formed-at-physiological-ph
#11
Jennifer C Boatz, Matthew J Whitley, Mingyue Li, Angela M Gronenborn, Patrick C A van der Wel
Cataracts cause vision loss through the large-scale aggregation of eye lens proteins as a result of ageing or congenital mutations. The development of new treatments is hindered by uncertainty about the nature of the aggregates and their mechanism of formation. We describe the structure and morphology of aggregates formed by the P23T human γD-crystallin mutant associated with congenital cataracts. At physiological pH, the protein forms aggregates that look amorphous and disordered by electron microscopy, reminiscent of the reported formation of amorphous deposits by other crystallin mutants...
May 5, 2017: Nature Communications
https://www.readbyqxmd.com/read/28473699/ocular-pathology-of-oculocerebrorenal-syndrome-of-lowe-novel-mutations-and-genotype-phenotype-analysis
#12
Emilie Song, Na Luo, Jorge A Alvarado, Maria Lim, Cathleen Walnuss, Daniel Neely, Dan Spandau, Alireza Ghaffarieh, Yang Sun
Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments. OCRL1 encodes an inositol polyphosphate 5-phosphatase which preferentially dephosphorylates phosphatidylinositide 4,5 bisphosphate (PI(4,5)P2). We have identified two novel mutations in two unrelated Lowe syndrome patients with congenital glaucoma. Novel deletion mutations are detected at c.739-742delAAAG in Lowe patient 1 and c...
May 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28468959/dominant-er-stress-inducing-wfs1-mutations-underlie-a-genetic-syndrome-of-neonatal-infancy-onset-diabetes-congenital-sensorineural-deafness-and-congenital-cataracts
#13
Elisa De Franco, Sarah E Flanagan, Takuya Yagi, Damien Abreu, Jana Mahadevan, Matthew B Johnson, Garan Jones, Fernanda Acosta, Mphele Mulaudzi, Ngee Lek, Vera Oh, Oliver Petz, Richard Caswell, Sian Ellard, Fumihiko Urano, Andrew T Hattersley
Neonatal diabetes is frequently part of a complex syndrome with extra-pancreatic features: 18 genes causing syndromic neonatal diabetes have been identified to date. There remain patients with neonatal diabetes who have novel genetic syndromes.We performed exome sequencing in a patient and his unrelated, unaffected parents to identify the genetic aetiology of a syndrome characterized by neonatal diabetes, sensorineural deafness and congenital cataracts. Further testing was performed in 311 patients with diabetes diagnosed before 1 year of age in whom all known genetic causes had been excluded...
May 3, 2017: Diabetes
https://www.readbyqxmd.com/read/28465303/epidemiology-of-blindness-in-children
#14
REVIEW
Ameenat Lola Solebo, Lucinda Teoh, Jugnoo Rahi
An estimated 14 million of the world's children are blind. A blind child is more likely to live in socioeconomic deprivation, to be more frequently hospitalised during childhood and to die in childhood than a child not living with blindness. This update of a previous review on childhood visual impairment focuses on emerging therapies for children with severe visual disability (severe visual impairment and blindness or SVI/BL).For children in higher income countries, cerebral visual impairment and optic nerve anomalies remain the most common causes of SVI/BL, while retinopathy of prematurity (ROP) and cataract are now the most common avoidable causes...
May 2, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28464487/a-novel-xp22-13-microdeletion-in-nance-horan-syndrome
#15
Andrea Accogli, Monica Traverso, Francesca Madia, Tommaso Bellini, Maria Stella Vari, Francesca Pinto, Valeria Capra
BACKGROUND: Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental anomalies and facial dysmorphisms. Notably, up to 30% of NHS patients have intellectual disability and a few patients have been reported to have congenital cardiac defects. Nance-Horan syndrome is caused by mutations in the NHS gene that is highly expressed in the midbrain, retina, lens, tooth, and is conserved across vertebrate species. Although most pathogenic mutations are nonsense mutations, a few genomic rearrangements involving NHS locus have been reported, suggesting a possible pathogenic role of the flanking genes...
May 2, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28461838/bilateral-chorioretinal-scars-in-a-child-case-report
#16
Tomi Anca, Stefan Irina
The eye manifestations of intrauterine infections are multiple, but chorioretinal scars and/or active chorioretinitis are the most frequently reported. When associated with other systemic manifestations of the infection, the diagnosis becomes more obvious, but when eye involvement is the only abnormality, etiology often remains uncertain. We are presenting the case of an 8-year-old female patient whose fundus lesions revealed an unusual choroidoretinopathy, associated with cataract in one eye. Her general examination and her medical history were unremarkable...
June 2016: Mædica
https://www.readbyqxmd.com/read/28455998/new-mutations-in-gja8-expand-the-phenotype-to-include-total-sclerocornea
#17
Alan S Ma, John R Grigg, Ivan Prokudin, Maree Flaherty, Bruce Bennetts, Robyn V Jamieson
This project expands the disease spectrum for mutations in GJA8 to include total sclerocornea, rudimentary lenses and microphthalmia, in addition to this gene's previously known role in isolated congenital cataracts. Ophthalmic findings revealed bilateral total sclerocornea in three probands, with small abnormal lenses in two of the cases, and cataracts and microphthalmia in one case. Next-generation sequencing revealed de novo heterozygous mutations affecting the same codon of GJA8: (c.281G>A; p.(Gly94Glu) and c...
April 29, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28452406/the-sensitive-period-for-tactile-remapping-does-not-include-early-infancy
#18
Elena Azañón, Karla Camacho, Marta Morales, Matthew R Longo
Visual input during development seems crucial in tactile spatial perception, given that late, but not congenitally, blind people are impaired when skin-based and tactile external representations are in conflict (when crossing the limbs). To test whether there is a sensitive period during which visual input is necessary, 14 children (age = 7.95) and a teenager (LM; age = 17.38) deprived of early vision by cataracts, and whose sight was restored during the first 5 months and at age 7, respectively, were tested...
April 28, 2017: Child Development
https://www.readbyqxmd.com/read/28450710/targeted-exome-sequencing-of-congenital-cataracts-related-genes-broadening-the-mutation-spectrum-and-genotype-phenotype-correlations-in-27-chinese-han-families
#19
Yi Zhai, Jinyu Li, Wangshu Yu, Sha Zhu, Yinhui Yu, Menghan Wu, Guizhen Sun, Xiaohua Gong, Ke Yao
Congenital cataract is the most frequent inherited ocular disorder and the most leading cause of lifelong visual loss. The screening of pathogenic mutations can be very challenging in some cases, for congenital cataracts are clinically and genetically heterogeneous diseases. The aim of this study is to investigate the mutation spectrum and frequency of 54 cartaract-associated genes in 27 Chinese families with congenital cataracts. Variants in 54 cataract-associated genes were screened by targeted next-generation sequencing (NGS) and then validated by Sanger sequencing...
April 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28448293/trabeculectomy-or-transscleral-cyclophotocoagulation-as-initial-treatment-of-secondary-childhood-glaucoma-in-northern-tanzania
#20
Achim Fieß, Peter Shah, Freda Sii, Furahini Godfrey, Joe Abbott, Richard Bowman, Jacqueline Bauer, Stefan Dithmar, Heiko Philippin
PURPOSE: The purpose is to describe the outcome of trabeculectomy with transscleral cyclophotocoagulation (TSCPC) as an initial intervention for secondary childhood glaucoma in Northern Tanzania. METHODS: A retrospective, consecutive case series was analyzed of all children with secondary childhood glaucoma who underwent initial trabeculectomy or TSCPC between 2000 and 2013 at a referral eye unit in Northern Tanzania. Retrospective data were collected on causes of glaucoma, intraocular pressure (IOP), visual acuity, complications, and subsequent interventions...
April 26, 2017: Journal of Glaucoma
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